Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409533 | SCV000486785 | likely pathogenic | GRACILE syndrome | 2016-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001050600 | SCV001214715 | pathogenic | not provided | 2023-08-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 371250). This premature translational stop signal has been observed in individual(s) with Björnstad syndrome (PMID: 25895478). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs779331797, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg186*) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 12215968, 17314340, 19162478, 19508421, 22277166, 25895478). |
Baylor Genetics | RCV003475966 | SCV004210808 | pathogenic | Pili torti-deafness syndrome | 2023-06-08 | criteria provided, single submitter | clinical testing |